Mutagenetix > Incidental Mutation

Incidental Mutation 'R5010:Slc1a3'

390456

Institutional Source

Beutler Lab

Gene Symbol

Slc1a3

Ensembl Gene

ENSMUSG00000005360

Gene Name

solute carrier family 1 (glial high affinity glutamate transporter), member 3

Synonyms

Gmt1, MGluT1, B430115D02Rik, Eaat1, GLAST

MMRRC Submission

042601-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5010 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

8663608-8740248 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 8680330 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000005493 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005493]

AlphaFold

P56564

Predicted Effect

probably benign
Transcript: ENSMUST00000005493

SMART Domains

Protein: ENSMUSP00000005493
Gene: ENSMUSG00000005360

Domain	Start	End	E-Value	Type
Pfam:SDF	50	497	8.5e-135	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125997

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195237

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.6%

Validation Efficiency

98% (65/66)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a member of a high affinity glutamate transporter family. This gene functions in the termination of excitatory neurotransmission in central nervous system. Mutations are associated with episodic ataxia, Type 6. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2014]
PHENOTYPE: Mice homozygous for disruptions in this gene display no abnormalities with respect to appearance or survival but do display functional abnormalities related to the central nervous system. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810065E05Rik	C	T	11: 58,313,630 (GRCm39)	A86V	possibly damaging	Het
9430097D07Rik	A	G	2: 32,464,440 (GRCm39)		probably benign	Het
Actr5	T	A	2: 158,477,283 (GRCm39)	D411E	probably benign	Het
Ang5	A	G	14: 44,200,302 (GRCm39)	D122G	probably benign	Het
Atg9a	A	T	1: 75,162,704 (GRCm39)		probably null	Het
Cracd	G	C	5: 76,805,681 (GRCm39)		probably benign	Het
Dctd	C	T	8: 48,590,449 (GRCm39)		probably benign	Het
Ddx11	G	A	17: 66,454,717 (GRCm39)	V642M	possibly damaging	Het
Dis3l2	G	A	1: 86,688,043 (GRCm39)	V100I	probably benign	Het
Echdc2	T	C	4: 108,029,328 (GRCm39)	V111A	probably benign	Het
Egr1	A	G	18: 34,996,711 (GRCm39)	T498A	probably benign	Het
Exosc3	T	C	4: 45,317,702 (GRCm39)	K200R	possibly damaging	Het
Exosc8	T	C	3: 54,636,644 (GRCm39)	D229G	probably benign	Het
Ext1	T	A	15: 52,955,808 (GRCm39)	I430F	probably damaging	Het
Fbxw22	T	C	9: 109,232,492 (GRCm39)	N31S	probably benign	Het
Gja8	T	C	3: 96,827,165 (GRCm39)	T166A	probably benign	Het
Gm21814	T	A	6: 149,485,116 (GRCm39)		noncoding transcript	Het
Gm21915	T	A	9: 40,581,944 (GRCm39)	H12Q	probably benign	Het
Hgsnat	G	A	8: 26,437,988 (GRCm39)	R527*	probably null	Het
Iqgap2	A	G	13: 95,810,251 (GRCm39)	F731S	probably benign	Het
Jchain	T	C	5: 88,670,364 (GRCm39)	H85R	probably damaging	Het
Kcnb2	T	C	1: 15,383,186 (GRCm39)	C171R	probably benign	Het
Kcnk3	C	A	5: 30,780,149 (GRCm39)	R400S	possibly damaging	Het
Klhl28	C	T	12: 65,004,001 (GRCm39)	E171K	probably damaging	Het
Lrrfip2	T	C	9: 111,053,040 (GRCm39)	I375T	possibly damaging	Het
Mccc1	T	C	3: 36,033,166 (GRCm39)	N326S	probably benign	Het
Med13l	T	C	5: 118,731,615 (GRCm39)	V97A	possibly damaging	Het
Mertk	C	A	2: 128,625,920 (GRCm39)	T685K	probably benign	Het
Msh2	C	A	17: 88,030,841 (GRCm39)	A906E	probably benign	Het
Myom2	G	A	8: 15,133,310 (GRCm39)	V401M	probably damaging	Het
Nme5	A	C	18: 34,711,738 (GRCm39)	M1R	probably null	Het
Nop2	T	C	6: 125,110,726 (GRCm39)	S68P	probably benign	Het
Notch1	A	T	2: 26,366,126 (GRCm39)	D809E	possibly damaging	Het
Or14c39	T	C	7: 86,343,793 (GRCm39)	I43T	possibly damaging	Het
Ppat	C	T	5: 77,076,525 (GRCm39)		probably benign	Het
Prss23	T	A	7: 89,159,422 (GRCm39)	M216L	probably benign	Het
Psg18	A	T	7: 18,083,279 (GRCm39)	V171D	probably damaging	Het
Psg28	A	G	7: 18,161,816 (GRCm39)	V229A	probably damaging	Het
Qser1	T	C	2: 104,618,176 (GRCm39)	N879D	possibly damaging	Het
Rpap1	T	C	2: 119,600,522 (GRCm39)	N879S	probably benign	Het
Rusc2	T	C	4: 43,415,926 (GRCm39)	S411P	probably damaging	Het
Rxfp2	T	A	5: 149,990,825 (GRCm39)	W519R	probably damaging	Het
Scpep1	T	A	11: 88,832,175 (GRCm39)	Q185L	probably benign	Het
Serpinb11	A	G	1: 107,307,379 (GRCm39)	N270S	probably benign	Het
Serpinb6d	T	A	13: 33,855,427 (GRCm39)	M367K	probably benign	Het
Skint10	T	G	4: 112,584,869 (GRCm39)	I213L	probably benign	Het
Skint5	T	C	4: 113,403,734 (GRCm39)	T1163A	unknown	Het
Slamf9	A	T	1: 172,303,780 (GRCm39)	I42L	possibly damaging	Het
Smad6	T	A	9: 63,861,182 (GRCm39)	Q371L	possibly damaging	Het
Snx31	A	T	15: 36,555,469 (GRCm39)	V26E	probably damaging	Het
Spata31e5	A	G	1: 28,816,943 (GRCm39)	I363T	possibly damaging	Het
Taf4b	A	G	18: 14,955,229 (GRCm39)	N594S	possibly damaging	Het
Tanc2	T	C	11: 105,670,918 (GRCm39)	S172P	probably damaging	Het
Tas2r110	T	A	6: 132,845,438 (GRCm39)	Y156*	probably null	Het
Tbc1d20	G	A	2: 152,135,856 (GRCm39)		probably benign	Het
Timm50	A	T	7: 28,006,284 (GRCm39)	D272E	probably benign	Het
Ttn	T	G	2: 76,730,855 (GRCm39)		probably benign	Het
Vps13c	T	A	9: 67,823,661 (GRCm39)	F1362I	probably benign	Het
Vwf	T	C	6: 125,543,220 (GRCm39)	S154P	probably benign	Het
Zfp445	T	C	9: 122,681,410 (GRCm39)	R844G	probably benign	Het

Other mutations in Slc1a3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01133:Slc1a3	APN	15	8,680,477 (GRCm39)	missense	probably damaging	1.00
IGL01133:Slc1a3	APN	15	8,675,171 (GRCm39)	missense	probably damaging	1.00
IGL01696:Slc1a3	APN	15	8,671,822 (GRCm39)	missense	probably benign	0.19
IGL03108:Slc1a3	APN	15	8,668,562 (GRCm39)	missense	probably damaging	1.00
R0128:Slc1a3	UTSW	15	8,665,693 (GRCm39)	missense	probably benign	0.07
R0206:Slc1a3	UTSW	15	8,738,040 (GRCm39)	splice site	probably benign
R0312:Slc1a3	UTSW	15	8,665,721 (GRCm39)	missense	probably benign	0.00
R0385:Slc1a3	UTSW	15	8,668,619 (GRCm39)	missense	probably damaging	1.00
R0538:Slc1a3	UTSW	15	8,680,406 (GRCm39)	missense	probably benign
R0579:Slc1a3	UTSW	15	8,717,793 (GRCm39)	missense	probably damaging	0.98
R1799:Slc1a3	UTSW	15	8,717,888 (GRCm39)	missense	probably damaging	1.00
R2029:Slc1a3	UTSW	15	8,675,153 (GRCm39)	missense	probably benign	0.29
R3236:Slc1a3	UTSW	15	8,668,607 (GRCm39)	missense	probably damaging	0.98
R4494:Slc1a3	UTSW	15	8,668,579 (GRCm39)	missense	probably damaging	1.00
R5154:Slc1a3	UTSW	15	8,672,433 (GRCm39)	missense	probably benign	0.09
R5226:Slc1a3	UTSW	15	8,671,709 (GRCm39)	missense	probably damaging	1.00
R5538:Slc1a3	UTSW	15	8,675,188 (GRCm39)	missense	probably damaging	0.99
R6049:Slc1a3	UTSW	15	8,675,177 (GRCm39)	missense	probably damaging	1.00
R6072:Slc1a3	UTSW	15	8,738,052 (GRCm39)	missense	probably damaging	0.99
R6496:Slc1a3	UTSW	15	8,679,065 (GRCm39)	missense	probably benign	0.01
R7015:Slc1a3	UTSW	15	8,679,052 (GRCm39)	missense	probably damaging	1.00
R7168:Slc1a3	UTSW	15	8,675,386 (GRCm39)	missense	possibly damaging	0.79
R7255:Slc1a3	UTSW	15	8,672,483 (GRCm39)	missense	possibly damaging	0.90
R7476:Slc1a3	UTSW	15	8,672,568 (GRCm39)	missense	probably damaging	0.99
R7732:Slc1a3	UTSW	15	8,680,472 (GRCm39)	missense	probably benign	0.09
R8041:Slc1a3	UTSW	15	8,665,683 (GRCm39)	missense	probably benign	0.17
R8500:Slc1a3	UTSW	15	8,671,853 (GRCm39)	missense	probably damaging	0.97
R8525:Slc1a3	UTSW	15	8,680,423 (GRCm39)	missense	possibly damaging	0.93
R8525:Slc1a3	UTSW	15	8,672,459 (GRCm39)	missense	possibly damaging	0.52
R8698:Slc1a3	UTSW	15	8,668,636 (GRCm39)	missense	probably damaging	1.00
R8966:Slc1a3	UTSW	15	8,680,332 (GRCm39)	critical splice donor site	probably null
R9711:Slc1a3	UTSW	15	8,675,177 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCAGATCAGCCACTTCATC -3'
(R):5'- GCCCTAGATAGTAAGGCATCCG -3'

Sequencing Primer
(F):5'- CATCATCTATGTGGGATCAGAAGAC -3'
(R):5'- CCTAGATAGTAAGGCATCCGGGAAG -3'

Posted On

2016-06-06